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视隔发育不全合并综合征

Septo-optic Dysplasia Plus Syndrome.

作者信息

Gutierrez-Castillo Alejandro, Jimenez-Ruiz Amado, Chavez-Castillo Melissa, Ruiz-Sandoval José Luis

机构信息

Miscellaneous, Instituto Tecnológico Y De Estudios Superiores De Monterrey, Monterrey, MEX.

Neurology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Ciudad de Mexico, MEX.

出版信息

Cureus. 2018 Dec 13;10(12):e3727. doi: 10.7759/cureus.3727.

Abstract

Septo-optic dysplasia plus is a rare congenital syndrome characterized by the classic triad of optic nerve hypoplasia, hypothalamic-hypophyseal dysfunction, and midline abnormalities, with associated malformations of cortical development. Clinical manifestations include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction. We present the case of an 18-year-old man with a history of seizures, growth hormone deficiency, and optic nerve disease that was diagnosed with septo-optic dysplasia plus syndrome with characteristic imaging findings.

摘要

视隔发育不良综合征(Septo-optic dysplasia plus)是一种罕见的先天性综合征,其特征为视神经发育不全、下丘脑-垂体功能障碍和中线异常的经典三联征,并伴有皮质发育相关畸形。临床表现包括视神经疾病、癫痫、智力发育迟缓及内分泌功能障碍。我们报告一例18岁男性病例,其有癫痫发作、生长激素缺乏及视神经疾病史,经特征性影像学检查结果诊断为视隔发育不良综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1f2/6384050/ee28879ea3c8/cureus-0010-00000003727-i01.jpg

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